Ding Xia, Wang Xi, Cao Yuan, Zhang Jiaying, Lin Ming, Fan Xianqun, Li Jin
Department of Ophthalmology, Ninth People's Hospital, Shanghai JiaoTong University School of Medicine, No.639 ZhizaojuRoad, Shanghai, 200025, People's Republic of China.
Shanghai Key Laboratory of Orbital Diseases and Ocular Oncology, Shanghai, China.
BMC Ophthalmol. 2018 Aug 22;18(1):206. doi: 10.1186/s12886-018-0872-5.
Goldenhar syndrome has variable presentations and can affect multiple regions of the body. Diagnoses are based on clinical manifestations. The association of Goldenhar syndrome with blepharophimosis and limb deformities has not previously been reported. Here, we describe a patient who was diagnosed with Goldenhar syndrome in association with blepharophimosis, ocular hypertelorism, hearing loss and limb deformities.
A 10-year-old male was first referred to our ophthalmology clinic on 2009-2-11 for ocular hypertelorism and microphthalmia when he had chin-up position. In the first ophthalmic examination, his palpebral fissure length was 19 mm on the right and 20 mm on the left, both palpebral fissure height was 4 mm, the inner intercanthal distance was 63 mm, both upper margin reflex distances were - 1 mm, the myodynamia of the levator palpebrae muscle was 2 mm on the right and 3 mm on the left, and his visual acuity was 20/40 on the right and 20/32 on the left. A physical examination revealed the patient had developed limb deformities in his hands, wrists, elbows and shoulders along with hearing loss. The patient was diagnosed with Goldenhar syndrome because his clinical presentations included ocular hypertelorism, hearing loss, and multiple acral joint deformities. He underwent a first operation in 2009 and a second in 2015. The second operation achieved a satisfactory result in which the horizontal fissure length was 28 mm on both sides, both palpebral fissure height was 10 mm, the inner intercanthal distance was 30 mm, and both of the upper margin reflex distances were 4 mm. He continued to wear hearing aids as usual. His hearing loss and joint deformities were slated for long-term follow-up at his parents' request.
The patient, diagnosed with Goldenhar syndrome in association with blepharophimosis, ocular hypertelorism, hearing loss and limb deformities, underwent two operations and achieved a satisfactory result. The patient was submitted to long-term follow-up observations and symptomatic treatments that vary with age and systemic associations, as needed. When treating patients with Goldenhar syndrome, ophthalmology specialists should cooperate with a multi-disciplinary team of clinicians and reach agreement regarding the appropriate systemic and comprehensive treatments.
Goldenhar综合征临床表现多样，可累及身体多个部位。诊断基于临床表现。此前尚未报道过Goldenhar综合征与睑裂狭小及肢体畸形的关联。在此，我们描述一名被诊断为Goldenhar综合征并伴有睑裂狭小、眼距增宽、听力损失和肢体畸形的患者。
一名10岁男性于2009年2月11日首次因眼距增宽和小眼球被转诊至我们的眼科诊所，当时他处于引体向上姿势。在首次眼科检查中，他右侧睑裂长度为19毫米，左侧为20毫米，双侧睑裂高度均为4毫米，内眦间距为63毫米，双侧上睑缘反射距离均为 -1毫米，右侧提上睑肌肌力为2毫米，左侧为3毫米，右眼视力为20/40，左眼视力为20/32。体格检查发现该患者手部、腕部、肘部和肩部出现肢体畸形，同时伴有听力损失。该患者被诊断为Goldenhar综合征，因为其临床表现包括眼距增宽、听力损失和多个肢端关节畸形。他在2009年接受了第一次手术，2015年接受了第二次手术。第二次手术取得了满意的效果，双侧水平睑裂长度为28毫米，双侧睑裂高度为10毫米，内眦间距为30毫米，双侧上睑缘反射距离均为4毫米。他继续像往常一样佩戴助听器。应其父母要求，他的听力损失和关节畸形将进行长期随访。
该患者被诊断为Goldenhar综合征并伴有睑裂狭小、眼距增宽、听力损失和肢体畸形，接受了两次手术，取得了满意的效果。根据患者年龄和全身合并症情况，必要时对患者进行长期随访观察和对症治疗。在治疗Goldenhar综合征患者时，眼科专家应与多学科临床团队合作，就适当的全身和综合治疗达成共识。
